Pneumothorax, Primary Spontaneous malady
Categories: Genetic diseases, Rare diseases, Respiratory diseases
Aliases & Descriptions for Pneumothorax, Primary Spontaneous:
Orphanet epidemiological data:53
familial spontaneous pneumothorax:
Inheritance: Autosomal dominant
Global: Genetic diseases, Rare diseases
Anatomical: Respiratory diseases
Rare respiratory diseases
NIH Rare Diseases:47 Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. This air creates pressure on the lung and can lead to its collapse. Symptoms may include chest pain on the side of the collapsed lung and shortness of breath. The blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. A change in air pressure or a very sudden deep breath may cause a rupture to occur. In most cases, there are no prior signs of illness. Once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. Many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. In rare cases, the condition can be caused by mutations in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance. In addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including Marfan syndrome, homocystinuria, and Birt-Hogg-Dube syndrome. Last updated: 6/17/2015
MalaCards based summary: Pneumothorax, Primary Spontaneous, also known as spontaneous pneumothorax, is related to supranuclear palsy, progressive and birt-hogg-dube syndrome, and has symptoms including abnormality of the pleura, spontaneous pneumothorax and Array. An important gene associated with Pneumothorax, Primary Spontaneous is FLCN (Folliculin). The drug talc has been mentioned in the context of this disorder. Affiliated tissues include lung, skin and colon.
UniProtKB/Swiss-Prot:69 Primary spontaneous pneumothorax: Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose- dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X- linked recessive and autosomal recessive inheritance have also been suggested.
Genetics Home Reference:25 Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.
OMIM:51 Birt-Hogg-Dube syndrome (BHD; 135150) is an allelic disorder characterized by spontaneous pneumothorax, as well as... (173600) more...
Diseases related to Pneumothorax, Primary Spontaneous via text searches within MalaCards or GeneCards Suite gene sharing:(show all 23)
Graphical network of the top 20 diseases related to Pneumothorax, Primary Spontaneous:
Human phenotypes related to Pneumothorax, Primary Spontaneous:63 53
UMLS symptoms related to Pneumothorax, Primary Spontaneous:dyspnea, hemoptysis, hepatic hydrothorax
Drugs for Pneumothorax, Primary Spontaneous (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 51)
Interventional clinical trials:(show all 31)
Search NIH Clinical Center for Pneumothorax, Primary Spontaneous
Inferred drug relations via UMLS67/NDF-RT45:
MalaCards organs/tissues related to Pneumothorax, Primary Spontaneous:35
Lung, Skin, Colon
UniProtKB/Swiss-Prot genetic disease variations for Pneumothorax, Primary Spontaneous:69
Clinvar genetic disease variations for Pneumothorax, Primary Spontaneous:5
Search GEO for disease gene expression data for Pneumothorax, Primary Spontaneous.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet